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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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De Novo Mutation in the Notch3 Gene Causing CADASIL
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Hereditary Dentatorubral-Pallidoluysian Atrophy:Clinical and Pathologic Variants in a Family
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Familial Chorea & Myoclonus Epilepsy
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Neonatal Seizures
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Unilateral Leukoencephalopathy Revealing Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Pediatric Leigh Syndrome
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Huntington Disease: Clinical Features and Diagnosis
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Bipolar II Disorder as the Initial Presentation of CADASIL:An Underdiagnosed Manifestation
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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Characyeristic features and progression of abnormalities on MRI for CARASIL
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Red Papules on the Tongue of a Patient with Hemiparesis
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Conventional MRI and NOTCH3 Gene Screening in Sporadic CADASIL
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Genomewide Association Studies of Stroke
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Update on Blepharospasm: Report from the BEBRF International Workshop
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MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
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Decoding Cryptogenic Cardioembolism
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Neuroimaging Findings in Human Prion Disease
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Metabolic Disease and Stroke: MELAS
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Dystonia
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
Neurol 64:1196-1203, Bosley, T.M.,et al, 2005
Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter
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Hyperhomocysteinemia, Low Folate and Vitamin B12 Concentrations, and Methylene Tetrahydrofolate Reductase Mutation in Cerebral Venous Thrombosis
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